V26A (p.Val26Ala) variant of C2CD2L (O14523)
V26A (p.Val26Ala) in C2CD2L (O14523) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
V26A (p.Val26Ala) variant details
- p.Val26Ala
- gnomAD 11-119107818-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.52
- CADD 27.40
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available